What is Turner Syndrome

Turner syndrome is a genetic disorder caused by the loss, or monosomy, of one of the X chromosomes. This loss of a chromosome results in an individual with only 45 chromosomes. Individuals with Turner syndrome are always female as males need an X and a Y chromosome.

Turner syndrome is named for Dr. Henry Turner who was the first to describe the disorder in 1938 after observing similar characteristics among some of his patients. However, it was not until 1960 that the cause of Turner syndrome was found to be a monosomy of chromosome X.

Characteristics commonly associated with Turner syndrome include unusually short stature that is very evident by five years of age, puffy hands and feet at birth, the presence of extra folds of skin on the neck (known as webbed neck), and a lower than normal hairline. Other characteristics associated with this disorder is partial or underdeveloped female anatomy due to ovarian failure. This results in the loss of the hormones necessary (estrogen in particular) for females to go through puberty and to develop breast tissue.

Girls who are diagnosed with Turner syndrome do not always exhibit the same physical characteristics. The most common characteristic shared amongst the majority of individuals is short stature with the average Turner syndrome patient only reaching a height of 4’8’’ tall. Some individuals are placed on human growth hormone treatments to grow taller.

The other common characteristic Turner syndrome patients share is the lack of female development during puberty. Females with Turner syndrome do not have the normal estrogen production to develop pubic hair, breasts, body curves, and genital development. Most females are placed on hormone replacement therapy at the onset of puberty to allow their bodies to develop in a normal fashion. Some individuals have an incomplete puberty and will develop small breasts and sparse pubic hair but will ultimately need to be on hormone replacement therapy to complete the developmental process.

Individuals with Turner syndrome have cognitive ability and intelligence in the normal range and do well in school and learning. However, they do show an increased amount of learning disability in areas that require memory, attention, and spatial-temporal processing.

Because of the ovarian failure, Turner syndrome patients cannot reproduce biologically but they can still become mothers. Advances in fertility treatment can make pregnancy possible with the use of donor eggs and hormone treatments.

Females with Turner syndrome can live a healthy and normal life. The severity of specific symptoms can vary significantly between individuals and those who have more physical issues should schedule regular doctor examinations to monitor their health.